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    Research 151–180 of 1000+

    1. Protoporphyrin IX: the Good, the Bad, and the Ugly Journal of Pharmacology and Experimental Therapeutics · 2015 · 138 citations
    2. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    3. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    4. Dermatoscopy of hair shaft disorders Journal of the American Academy of Dermatology · 2012 · 68 citations
    5. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    6. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    7. Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes Diabetes · 2011 · 53 citations
    8. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    9. Familial and Sporadic Porphyria Cutanea Tarda Medicine · 2010 · 38 citations
    10. Aromatase deficiency in a male patient - Case report and review of the literature. Bone · 2016 · 36 citations
    11. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    12. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    13. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    14. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    15. Rabson-Mendenhall syndrome: two case reports and a brief review of the literature Odontology · 2010 · 18 citations
    16. Helpful diagnostic markers of steroidogenesis for defining hyperandrogenemia in hirsute women Steroids · 2007 · 14 citations
    17. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    18. Male fertility and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 12 citations
    19. Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor<sup>†</sup> Photochemistry and photobiology · 2008 · 10 citations
    20. Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia) Journal für Kardiologie (Krause & Pachernegg GmbH) · 2010 · 8 citations
    21. A Case Report of Werner’s Syndrome With a Novel Mutation From India Cureus · 2020 · 4 citations
    22. Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation Dermatologica Sinica · 2010 · 3 citations
    23. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    24. The urine as a diagnostic key for a homozygous EGFR mutation Portuguese Journal of Nephrology & Hypertension · 2022 · 2 citations
    25. Premature Greying of Hair (Premature Canities): A Concern for Parent and Child Journal of Pigmentary Disorders · 2017 · 2 citations
    26. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    27. Stem Cells and their Niches Journal of Investigative Dermatology · 2013 · 1 citations
    28. Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders 2012 · 1 citations
    29. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    30. Ca <sup>2+</sup> -mediated protein citrullination regulates proliferation in the regenerating and malignant CNS 2026